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[Analysis of deafness gene variant screening of 7875 neonatal cases in Dongying area of Shandong].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Sept 2020

Tian Mingzhong, Cao Yanhua, Chen Zhenting, Qi Lixia, Liu Aihua, Li Hongmei, Bo Qifang, Liu Qiji

Abstract excerpt

OBJECTIVE: To determine the types and frequency of deafness-related variants among 7875 newborns from Dongying area of Shandong Province. METHODS: One hundred loci of 18 common deafness genes were subjected to semiconductor sequencing. Variant site, frequency and distribution of the variants were analyzed. RESULTS: In total 552 deafness gene variants were detected among the 7875 newborns, which yielded a...

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PMID: 32820508
DOI: 10.3760/cma.j.cn511374-20200316-00168

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